Varaico: Literature-Extracted Genetic Variants

PROC

463 papers

RefSeq Summary

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease...

Pfam Domains

Glaaa 47–87UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

FXa_inhibitionaa 140–175UCSCCoagulation Factor Xa inhibitory site

Trypsinaa 212–445UCSCTrypsin

Gene Aliases

HGNC Name

protein C, inactivator of coagulation factors Va and VIIIa

HGNC Previous Name

protein C (inactivator of coagulation factors Va and VIIIa)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000312.4

p.T79R

c.236C>G

Surrounding Variants

1 paper

NM_000312.4

p.T79_L80Splc

c.237+1G>T

3 papers

NM_000312.4

p.D77G

c.230A>G

3 papers

NM_000312.4

p.T79_L80Splc

c.237+5G>A

6 papers

NM_000312.4

p.V76M

c.226G>A

1 paper

NM_000312.4

p.N75delFs

c.224delA

1 paper

NM_000312.4

p.T79_L80Splc

c.237+15G>A

1 paper

NM_000312.4

p.E71*

c.211G>T

1 paper

NM_000312.4

p.K70R

c.209A>G

1 paper

NM_000312.4

p.K70E

c.208A>G

1 paper

NM_000312.4

p.K70fs

c.208_209fs

1 paper

NM_000312.4

p.A69A

c.207C>G

1 paper

NM_000312.4

p.K70delFs

c.209delA